Incidental Mutation 'R0270:Postn'
ID 35192
Institutional Source Beutler Lab
Gene Symbol Postn
Ensembl Gene ENSMUSG00000027750
Gene Name periostin, osteoblast specific factor
Synonyms A630052E07Rik, peri, Periostin, Osf2, OSF-2
MMRRC Submission 038496-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0270 (G1)
Quality Score 86
Status Validated
Chromosome 3
Chromosomal Location 54268530-54298458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 54291971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 724 (T724N)
Ref Sequence ENSEMBL: ENSMUSP00000112735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073012] [ENSMUST00000081564] [ENSMUST00000107985] [ENSMUST00000117373]
AlphaFold Q62009
Predicted Effect possibly damaging
Transcript: ENSMUST00000073012
AA Change: T724N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: T724N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000081564
AA Change: T751N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: T751N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
low complexity region 669 680 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107985
AA Change: T751N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: T751N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
low complexity region 669 680 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117373
AA Change: T724N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: T724N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127452
Predicted Effect unknown
Transcript: ENSMUST00000143258
AA Change: T68N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150868
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 96.0%
  • 20x: 93.2%
Validation Efficiency 99% (113/114)
MGI Phenotype FUNCTION: This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,093,906 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,440 (GRCm39) N304K probably benign Het
Abcf3 T A 16: 20,378,918 (GRCm39) probably null Het
Acadm C T 3: 153,641,961 (GRCm39) M190I possibly damaging Het
Adamtsl3 G A 7: 82,206,032 (GRCm39) R739Q probably damaging Het
Ank1 T A 8: 23,578,941 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,540,626 (GRCm39) probably benign Het
Arhgdib A G 6: 136,903,732 (GRCm39) V31A probably damaging Het
Arid4a A G 12: 71,119,406 (GRCm39) R342G probably damaging Het
Asic3 C T 5: 24,622,700 (GRCm39) L517F probably benign Het
Atxn7l1 C T 12: 33,392,150 (GRCm39) P242L possibly damaging Het
AY761185 T A 8: 21,434,616 (GRCm39) E37D possibly damaging Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Batf A T 12: 85,755,446 (GRCm39) T100S probably benign Het
Blcap A T 2: 157,399,897 (GRCm39) Y59* probably null Het
Cacnb3 G A 15: 98,540,440 (GRCm39) A350T probably damaging Het
Cdk15 T A 1: 59,349,965 (GRCm39) V319D probably damaging Het
Cenpf T C 1: 189,382,911 (GRCm39) H2661R probably benign Het
Cenpq T C 17: 41,240,941 (GRCm39) E106G probably damaging Het
Cfap43 A G 19: 47,785,642 (GRCm39) probably benign Het
Cfb G A 17: 35,079,362 (GRCm39) S778L possibly damaging Het
Clec2m A T 6: 129,302,571 (GRCm39) L152* probably null Het
Clspn T A 4: 126,467,029 (GRCm39) N631K probably damaging Het
Cntn2 T A 1: 132,449,462 (GRCm39) T660S probably damaging Het
Cntrob T A 11: 69,202,167 (GRCm39) H475L possibly damaging Het
Ddx46 T C 13: 55,821,917 (GRCm39) I863T probably benign Het
Dnah11 G A 12: 118,004,748 (GRCm39) T2191I probably damaging Het
Dock9 T C 14: 121,813,411 (GRCm39) T1703A probably benign Het
Fam13c C T 10: 70,380,343 (GRCm39) P424S probably benign Het
Fan1 T C 7: 63,998,619 (GRCm39) N968D probably benign Het
Fbxl20 A T 11: 97,989,329 (GRCm39) probably benign Het
Fkbp1b A T 12: 4,888,229 (GRCm39) probably benign Het
G930045G22Rik T A 6: 50,824,039 (GRCm39) noncoding transcript Het
Gm28042 C A 2: 119,872,073 (GRCm39) R1008S probably benign Het
Gon4l G A 3: 88,765,707 (GRCm39) S376N probably damaging Het
Gstt3 C A 10: 75,616,749 (GRCm39) R15L probably damaging Het
Gtdc1 A T 2: 44,642,186 (GRCm39) S73T possibly damaging Het
Hhatl A G 9: 121,613,786 (GRCm39) S419P probably benign Het
Hirip3 T G 7: 126,462,363 (GRCm39) S46R probably damaging Het
Hsf2 A G 10: 57,378,735 (GRCm39) T204A probably benign Het
Impg2 G A 16: 56,089,378 (GRCm39) E1108K possibly damaging Het
Itgb2l G T 16: 96,224,130 (GRCm39) probably benign Het
Itih5 A T 2: 10,256,075 (GRCm39) N847I probably benign Het
Kif1a T C 1: 92,982,164 (GRCm39) probably benign Het
Klhl1 T A 14: 96,755,780 (GRCm39) probably benign Het
Ktn1 T A 14: 47,952,119 (GRCm39) D963E probably benign Het
Lclat1 T A 17: 73,547,022 (GRCm39) V313E probably benign Het
Lrrn4 T C 2: 132,712,639 (GRCm39) S395G probably benign Het
Macroh2a1 G A 13: 56,243,927 (GRCm39) probably benign Het
Mbtps1 G A 8: 120,264,856 (GRCm39) probably benign Het
Me1 A G 9: 86,478,257 (GRCm39) probably benign Het
Mov10 C A 3: 104,702,721 (GRCm39) C948F probably benign Het
Mterf1a G A 5: 3,940,990 (GRCm39) Q293* probably null Het
Nfkb2 A T 19: 46,300,065 (GRCm39) M838L possibly damaging Het
Nhlrc2 T A 19: 56,540,302 (GRCm39) L97Q probably damaging Het
Nr6a1 A T 2: 38,629,032 (GRCm39) Y331N possibly damaging Het
Nup214 C T 2: 31,924,826 (GRCm39) A1785V probably damaging Het
Ogg1 C T 6: 113,306,217 (GRCm39) T138I probably benign Het
Or5ac20 A G 16: 59,104,116 (GRCm39) V248A probably damaging Het
Or5b107 A G 19: 13,143,251 (GRCm39) Y291C probably damaging Het
Or5b124 A G 19: 13,611,048 (GRCm39) Y191C probably damaging Het
Or7g17 T A 9: 18,768,127 (GRCm39) Y60N probably damaging Het
Plod2 G T 9: 92,466,574 (GRCm39) R178L probably benign Het
Polr3b T A 10: 84,554,339 (GRCm39) L1017Q probably benign Het
Ppm1l T G 3: 69,225,309 (GRCm39) probably benign Het
Prpf8 T G 11: 75,396,075 (GRCm39) L1983R probably damaging Het
Psma7 A G 2: 179,681,193 (GRCm39) V59A probably benign Het
Qser1 T A 2: 104,619,306 (GRCm39) Y502F probably benign Het
Rad50 T C 11: 53,558,852 (GRCm39) D1129G probably damaging Het
Rasal1 C A 5: 120,812,794 (GRCm39) P606Q probably damaging Het
Rgs6 A G 12: 83,180,463 (GRCm39) Y438C probably damaging Het
Rnf180 A G 13: 105,388,774 (GRCm39) C73R probably benign Het
Rnf216 T A 5: 143,065,996 (GRCm39) I474F possibly damaging Het
Sdha A T 13: 74,480,366 (GRCm39) L371Q probably damaging Het
Sdk1 T G 5: 142,070,321 (GRCm39) L1162R possibly damaging Het
Sh3rf2 T C 18: 42,237,146 (GRCm39) I223T probably damaging Het
Sirpb1a A G 3: 15,475,587 (GRCm39) V316A probably damaging Het
Slc12a4 A T 8: 106,672,021 (GRCm39) I897N probably benign Het
Slc35d1 A T 4: 103,048,035 (GRCm39) V243E probably damaging Het
Slc4a11 T A 2: 130,532,852 (GRCm39) K200N possibly damaging Het
Slc9a8 T A 2: 167,293,216 (GRCm39) M188K probably damaging Het
Slco1a8 T A 6: 141,918,137 (GRCm39) I580F possibly damaging Het
Snrnp200 T C 2: 127,074,902 (GRCm39) S1492P probably damaging Het
Sphk2 T C 7: 45,360,149 (GRCm39) *618W probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tdpoz3 A G 3: 93,734,231 (GRCm39) N302S probably benign Het
Tdrd6 T C 17: 43,935,199 (GRCm39) M1950V probably benign Het
Tmem39a A G 16: 38,384,675 (GRCm39) probably benign Het
Trip4 A T 9: 65,765,640 (GRCm39) I353K probably damaging Het
Trip6 A T 5: 137,311,103 (GRCm39) F204L probably benign Het
Trpm4 T A 7: 44,968,677 (GRCm39) I419F possibly damaging Het
Ttn C A 2: 76,775,140 (GRCm39) E1967D probably damaging Het
Uba2 C T 7: 33,850,281 (GRCm39) V391M possibly damaging Het
Ubr4 T G 4: 139,206,746 (GRCm39) probably benign Het
Upf1 G A 8: 70,788,295 (GRCm39) probably benign Het
Vmn1r228 A C 17: 20,996,858 (GRCm39) V220G possibly damaging Het
Vmn2r79 A G 7: 86,652,594 (GRCm39) M429V probably benign Het
Vps36 C T 8: 22,700,472 (GRCm39) T210I possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Ybx1 C T 4: 119,138,788 (GRCm39) G126D probably benign Het
Yipf5 C A 18: 40,339,460 (GRCm39) probably benign Het
Zbtb47 A G 9: 121,596,641 (GRCm39) T666A probably benign Het
Zdhhc5 A C 2: 84,520,459 (GRCm39) S573A probably benign Het
Zfp457 A T 13: 67,441,991 (GRCm39) C99S probably damaging Het
Zfp52 T A 17: 21,781,564 (GRCm39) C471S probably damaging Het
Zfp558 C T 9: 18,379,252 (GRCm39) V71I probably damaging Het
Zfp655 A G 5: 145,181,267 (GRCm39) Y375C probably damaging Het
Zfp882 A T 8: 72,668,459 (GRCm39) T429S probably benign Het
Zmym2 T C 14: 57,187,141 (GRCm39) probably null Het
Other mutations in Postn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Postn APN 3 54,281,149 (GRCm39) missense probably damaging 1.00
IGL00567:Postn APN 3 54,291,944 (GRCm39) missense probably benign
IGL00742:Postn APN 3 54,280,315 (GRCm39) missense possibly damaging 0.81
IGL00971:Postn APN 3 54,276,697 (GRCm39) missense possibly damaging 0.88
IGL01105:Postn APN 3 54,270,131 (GRCm39) missense probably damaging 1.00
IGL01460:Postn APN 3 54,282,579 (GRCm39) unclassified probably benign
IGL01609:Postn APN 3 54,276,649 (GRCm39) missense probably damaging 0.99
IGL01878:Postn APN 3 54,290,901 (GRCm39) splice site probably null
IGL01885:Postn APN 3 54,283,455 (GRCm39) unclassified probably benign
IGL02040:Postn APN 3 54,270,110 (GRCm39) missense probably benign
IGL02431:Postn APN 3 54,282,517 (GRCm39) missense probably damaging 0.99
IGL02578:Postn APN 3 54,284,625 (GRCm39) missense possibly damaging 0.93
IGL02943:Postn APN 3 54,285,029 (GRCm39) critical splice donor site probably null
IGL03307:Postn APN 3 54,282,548 (GRCm39) missense probably benign 0.32
sticklike UTSW 3 54,279,527 (GRCm39) missense probably damaging 1.00
R0117:Postn UTSW 3 54,290,902 (GRCm39) splice site probably benign
R0410:Postn UTSW 3 54,292,698 (GRCm39) missense possibly damaging 0.93
R0548:Postn UTSW 3 54,274,997 (GRCm39) nonsense probably null
R0734:Postn UTSW 3 54,270,136 (GRCm39) missense probably damaging 1.00
R1648:Postn UTSW 3 54,283,522 (GRCm39) missense probably damaging 1.00
R1796:Postn UTSW 3 54,281,177 (GRCm39) missense probably damaging 1.00
R1823:Postn UTSW 3 54,292,708 (GRCm39) critical splice donor site probably null
R1938:Postn UTSW 3 54,285,033 (GRCm39) splice site probably null
R2311:Postn UTSW 3 54,292,644 (GRCm39) missense probably damaging 0.98
R2566:Postn UTSW 3 54,284,374 (GRCm39) missense probably damaging 0.97
R2938:Postn UTSW 3 54,277,731 (GRCm39) missense probably damaging 1.00
R4105:Postn UTSW 3 54,283,462 (GRCm39) missense probably damaging 1.00
R4394:Postn UTSW 3 54,278,376 (GRCm39) missense probably damaging 1.00
R4620:Postn UTSW 3 54,284,414 (GRCm39) missense probably damaging 1.00
R4628:Postn UTSW 3 54,279,578 (GRCm39) missense probably damaging 1.00
R4697:Postn UTSW 3 54,282,492 (GRCm39) missense probably damaging 1.00
R4709:Postn UTSW 3 54,292,031 (GRCm39) intron probably benign
R4952:Postn UTSW 3 54,297,736 (GRCm39) utr 3 prime probably benign
R5303:Postn UTSW 3 54,285,018 (GRCm39) missense probably damaging 1.00
R5704:Postn UTSW 3 54,279,527 (GRCm39) missense probably damaging 1.00
R5902:Postn UTSW 3 54,279,510 (GRCm39) missense probably benign 0.03
R5914:Postn UTSW 3 54,281,221 (GRCm39) nonsense probably null
R6032:Postn UTSW 3 54,284,137 (GRCm39) missense possibly damaging 0.53
R6032:Postn UTSW 3 54,284,137 (GRCm39) missense possibly damaging 0.53
R6101:Postn UTSW 3 54,279,641 (GRCm39) splice site probably null
R6105:Postn UTSW 3 54,279,641 (GRCm39) splice site probably null
R6334:Postn UTSW 3 54,292,703 (GRCm39) missense probably benign
R7131:Postn UTSW 3 54,270,056 (GRCm39) missense probably damaging 1.00
R7322:Postn UTSW 3 54,277,701 (GRCm39) missense probably damaging 1.00
R7430:Postn UTSW 3 54,277,623 (GRCm39) missense probably damaging 1.00
R7497:Postn UTSW 3 54,270,091 (GRCm39) missense probably damaging 1.00
R8245:Postn UTSW 3 54,283,468 (GRCm39) missense probably null 0.99
R8350:Postn UTSW 3 54,277,679 (GRCm39) missense probably damaging 1.00
R8748:Postn UTSW 3 54,296,760 (GRCm39) missense probably damaging 0.97
R9221:Postn UTSW 3 54,282,515 (GRCm39) missense possibly damaging 0.79
R9301:Postn UTSW 3 54,292,659 (GRCm39) missense probably benign 0.26
R9313:Postn UTSW 3 54,273,336 (GRCm39) missense probably damaging 0.99
R9657:Postn UTSW 3 54,290,820 (GRCm39) missense probably benign 0.04
RF018:Postn UTSW 3 54,291,913 (GRCm39) missense probably damaging 0.96
X0004:Postn UTSW 3 54,270,115 (GRCm39) missense probably damaging 1.00
X0022:Postn UTSW 3 54,278,261 (GRCm39) missense probably benign 0.03
Z1088:Postn UTSW 3 54,282,548 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- AACAATGGCTAGGGCTGTCTCTTAAAC -3'
(R):5'- GACTGTAGCATGAATAGAACCCCAAAGG -3'

Sequencing Primer
(F):5'- GGGCTGTCTCTTAAACAAACGTG -3'
(R):5'- TTCAGTAACTTGGGAAGCTGTAAAAG -3'
Posted On 2013-05-09